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Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama

โœ Scribed by K. KAJINAMI; H. MABUCHI; A. INAZU; H. FUJITA; J. KOIZUMI; R. TAKEDA; T. MATSUE; M. KIBATA


Book ID
114741848
Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
423 KB
Volume
227
Category
Article
ISSN
0954-6820

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FH-Sydney 1 and 2: Two novel frameshift
โœ J. A. Cavanaugh; S. Easteal; L. A. Simons; D. W. Thomas; S. W. Serjeantson ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 475 KB

## Communicated by H. H. Dahl We report two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene that lead to familial hypercholesterolemia in separate lineages. The lesions, FH-Sydney 1 and FH-Sydney 2, were detected by a modified heteroduplex analysis of exon-specif